ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.1098T>A (p.Asn366Lys)

gnomAD frequency: 0.00022  dbSNP: rs147882975
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001232108 SCV001404654 uncertain significance Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 366 of the MKKS protein (p.Asn366Lys). This variant is present in population databases (rs147882975, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with MKKS-related conditions. ClinVar contains an entry for this variant (Variation ID: 958862). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MKKS protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
New York Genome Center RCV002468200 SCV002764452 uncertain significance McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 2021-11-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002468200 SCV002784936 uncertain significance McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 2022-05-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004695239 SCV005194876 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004538487 SCV004719376 uncertain significance MKKS-related disorder 2024-09-24 no assertion criteria provided clinical testing The MKKS c.1098T>A variant is predicted to result in the amino acid substitution p.Asn366Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.076% of alleles in individuals of African descent in gnomAD, which may be too common to be an unreported primary cause of disease. Although we suspect this variant may possibly be benign, at this time its clinical significance is uncertain due to the absence of conclusive functional and genetic evidence.

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